ABHD15 c.1048G>A ;(p.V350M)

Variant ID: 17-27889938-C-T

NM_198147.2(ABHD15):c.1048G>A;(p.V350M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: ABHD15: V350M; rs374284598
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer.

Cancer Cell
Woolston, Andrew A; Khan, Khurum K; Spain, Georgia G; Barber, Louise J LJ; Griffiths, Beatrice B; Gonzalez-Exposito, Reyes R; Hornsteiner, Lisa L; Punta, Marco M; Patil, Yatish Y; Newey, Alice A; Mansukhani, Sonia S; Davies, Matthew N MN; Furness, Andrew A; Sclafani, Francesco F; Peckitt, Clare C; Jiménez, Mirta M; Kouvelakis, Kyriakos K; Ranftl, Romana R; Begum, Ruwaida R; Rana, Isma I; Thomas, Janet J; Bryant, Annette A; Quezada, Sergio S; Wotherspoon, Andrew A; Khan, Nasir N; Fotiadis, Nikolaos N; Marafioti, Teresa T; Powles, Thomas T; Lise, Stefano S; Calvo, Fernando F; Guettler, Sebastian S; von Loga, Katharina K; Rao, Sheela S; Watkins, David D; Starling, Naureen N; Chau, Ian I; Sadanandam, Anguraj A; Cunningham, David D; Gerlinger, Marco M
Publication Date: 2019-07-08

Variant appearance in text: ABHD15: V350M
PubMed Link: 31287991
Variant Present in the following documents:
  • mmc3.xlsx, sheet 21
View BVdb publication page